Rates and results of germline genetic testing in patients with epithelial ovarian cancer at a tertiary care center.
Authors: Alexandra Samborski, MaryAnn Wilbur, Lila Marshall, Lauren Mahon, Elizabeth Anderson, Kelly Thevenet-Morrison, Meghan Underhill-Blazey
Journal: Journal of Clinical Oncology (2022)

e17607 Background: All patients with a diagnosis of epithelial ovarian, tubal or peritoneal cancer should receive genetic counseling and be offered germline testing, based on the Society for Gynecologic Oncology 2014 position statement. This information can be used to determine treatment regimens and trigger cascade testing in family members to allow appropriate surveillance and risk-reducing measures. Despite these recommendations, published rates of testing remain well below target. At our tertiary care center, a Nurse Practitioner certified in cancer genetics is embedded into the gynecologic oncology clinic and offers counseling, primarily through telemedicine. The aim of this project is to assess the rate of genetic counseling and testing, and the genetic testing results. Methods: This was an IRB approved retrospective study. Data were collected for all patients with a diagnosis of epithelial ovarian, tubal or peritoneal cancer who received oncologic care at our cancer center between 1/1/2019 and 4/1/2021. Information on patients’ demographics, year of cancer diagnosis, genetic counseling or testing, and the results of testing was obtained. Descriptive statistics (means, median, range, standard deviation, frequency) were assessed for each variable. Results: A total of 343 patients were identified and met inclusion criteria. The median age of patients was 65 years (range 19-93) and a majority were White (92%). Of these, 321 were referred for genetic counseling (94%), 306 had genetic testing ordered (89%) and 301 completed germline genetic testing (88%). Of the 22 patients who were not referred, reasons included prior completion of genetic testing (n = 3), patient hospitalization/death (5), patient declination (5), or no reason listed (9). Patients who did not receive a referral for genetic testing lived farther from the cancer center (mean of 25 vs 101 miles, p &lt; 0.001). There was no significant difference in rates of referral based on race or living in a low socioeconomic zip code. Of patients who completed the testing, 16% had a pathogenic variant identified, 23% had a variant of unknown significance (VUS), and 2% had both a pathogenic variant and VUS. Conclusions: The rates of genetic counseling referral (94%) and testing (88%) were higher than previously reported. They are consistent with the few reports from other institutions with an embedded professional in the clinic, further supporting this model. Unique to this center, the professional embedded within this clinic was a specialty trained Nurse Practitioner, offering an alternative approach that may be more accessible to clinics where genetic counselors are not available. These results offer information to support use of alternative personnel and visit models to improve testing rates. Next steps will be to evaluate the impact of this clinical model on treatment of the patient and success of cascade testing for biological relatives.